Variant Results

or

Results for "SSBP3"

Variant Events: 34

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

SSBP3

2-1153-003

chr1:
54882852-54882852

T

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SSBP3

14578.p1

chr1:
54694107-54694107

C

T

intronic

De novo

-

3.3E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

SSBP3

2-0122-004

chr1:
54968385-54968385

C

T

intergenic

De novo

-

Yuen2017 G

SSBP3

1-0441-003

chr1:
54980934-54980934

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SSBP3

2-1089-003

chr1:
54710217-54710217

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

AU036203

chr1:
54778175-54778175

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

AU3764302

chr1:
54925210-54925210

T

G

intergenic

De novo

-

Yuen2017 G

SSBP3

AU1223303

chr1:
54736914-54736914

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

2-0142-003

chr1:
54868456-54868456

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

AU3912303

chr1:
54967150-54967150

C

G

intergenic

De novo

-

Yuen2017 G

SSBP3

2-1268-003

chr1:
54976318-54976318

C

G

intergenic

De novo

-

Yuen2017 G

SSBP3

2-1268-003

chr1:
54976313-54976313

C

G

intergenic

De novo

-

Yuen2017 G

SSBP3

7-0174-003

chr1:
54856224-54856224

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

36919

chr1:
54694107-54694107

C

T

intronic

De novo

-

3.3E-5

Trost2022 G

SSBP3

SP0182257

chr1:
54693996-54693996

G

A

exonic

De novo

nonsynonymous SNV

NM_001009955
NM_018070
NM_145716

c.C988T
c.C1009T
c.C1069T

p.P330S
p.P337S
p.P357S

20.7

-

Trost2022 G

SSBP3

AU3517301

chr1:
55003458-55003458

G

A

intergenic

De novo

-

Yuen2017 G

SSBP3

SP0041468

chr1:
54707913-54707913

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

SSBP3

MSSNG00062-003

chr1:
54710554-54710554

C

T

intronic

De novo

-

Trost2022 G

SSBP3

AU079104

chr1:
54774789-54774789

C

T

intronic

De novo

-

Yuen2017 G

SSBP3

1-1005-004

chr1:
54709905-54709905

T

C

intronic

De novo

-

Trost2022 G

SSBP3

2-1425-004

chr1:
54968751-54968751

T

C

intergenic

De novo

-

Yuen2017 G

SSBP3

2-0102-004

chr1:
54989145-54989145

T

C

intergenic

De novo

-

Yuen2017 G

SSBP3

3-0646-000

chr1:
54798597-54798597

A

G

intronic

De novo

-

Trost2022 G

SSBP3

1-0994-003

chr1:
54733841-54733841

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

7-0460-003

chr1:
54761375-54761375

C

A

intronic

De novo

-

Trost2022 G

SSBP3

2-1504-003

chr1:
54861649-54861649

A

G

intronic

De novo

-

Trost2022 G

SSBP3

3-0253-000

chr1:
54807888-54807888

G

A

intronic

De novo

-

Trost2022 G

SSBP3

MSSNG00404-003

chr1:
54746291-54746291

A

G

intronic

De novo

-

Trost2022 G

SSBP3

MT_13.3

chr1:
54721681-54721681

G

A

intronic

De novo

-

Trost2022 G

SSBP3

AU011903

chr1:
54853382-54853382

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

SSBP3

7-0373-003

chr1:
54760842-54760842

C

T

intronic

De novo

-

Trost2022 G

SSBP3

14297.p1

chr1:
54870614-54870614

G

A

intronic

De novo

-

8.829E-6

Krumm2015 E
Satterstrom2020 E

SSBP3

MT_165.3

chr1:
54758883-54758883

T

C

intronic

De novo

-

Trost2022 G

SSBP3

SSC10794

chr1:
54870614-54870614

G

A

intronic

De novo

-

8.829E-6

Trost2022 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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